A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563563



Internal ID7036323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:100396062..100398504hg38UCSC Ensembl
Outerchr12:100789840..100792282hg19UCSC Ensembl
Outerchr12:99313971..99316413hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382443
hg192443
hg182443
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988196
Supporting Variants
SamplesHuRef
Known GenesSLC17A8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563563
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer